Dysarthria, and Broad nasal tip

Diseases related with Dysarthria and Broad nasal tip

In the following list you will find some of the most common rare diseases related to Dysarthria and Broad nasal tip that can help you solving undiagnosed cases.


Top matches:

High match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

High match INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME


Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.

INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME Is also known as mental retardation, autosomal dominant 17|mrd17

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-CRANIOFACIAL DYSMORPHISM-CRYPTORCHIDISM SYNDROME

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Other less relevant matches:

High match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE


Spondyloepimetaphyseal dysplasia, Bieganski type is a rare primary bone dysplasia disorder characterized by infantile-onset, progressive, multiple skeletal deformities in association with slowly progressive central and peripheral neurodegeneration. Patients present short stature, coarse facies, psychomotor regression and cognitive impairment. Imaging shows abnormally-shaped vertebral bodies, small, flat epiphyses, and widened metaphyses, as well as cerebral and cerebellar atrophy and progressive axonal-hypomyelinating neuropathy.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE Is also known as semd, x-linked, with mental deterioration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BIEGANSKI TYPE

High match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

High match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

High match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Medium match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Top 5 symptoms//phenotypes associated to Dysarthria and Broad nasal tip

Symptoms // Phenotype % cases
Delayed speech and language development Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Dysarthria and Broad nasal tip. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Cerebellar hypoplasia Dysmetria Hypertelorism Ataxia Cryptorchidism Generalized hypotonia Smooth philtrum Microcephaly Deeply set eye Gastroesophageal reflux Cognitive impairment Downturned corners of mouth Constipation Nystagmus Apraxia Hearing impairment Anteverted nares Tremor High palate Gait disturbance Midface retrusion Synophrys Hyperreflexia Micrognathia Wide mouth Thin upper lip vermilion Feeding difficulties Wide nasal bridge Myopia Prominent nasal bridge Hypermetropia Small for gestational age Hypothyroidism Inguinal hernia Epicanthus Posteriorly rotated ears Micropenis High forehead Intrauterine growth retardation Neurological speech impairment Triangular face Sensorineural hearing impairment Growth delay Delayed skeletal maturation Ptosis Depressed nasal bridge Long face Downslanted palpebral fissures Infantile muscular hypotonia Long philtrum Intellectual disability, mild Cerebellar atrophy Aggressive behavior Bulbous nose

Rare Symptoms - Less than 30% cases


Enuresis Clinodactyly Short nose Celiac disease Babinski sign Obesity Spasticity Hernia Diabetes mellitus Visual impairment Villous atrophy Feeding difficulties in infancy Osteoporosis Osteopenia Mandibular prognathia Esotropia Cataract Neoplasm Narrow forehead Coarse facial features High hypermetropia Malar flattening Hypoplasia of the corpus callosum Short neck Brachydactyly Paralysis Attention deficit hyperactivity disorder Postnatal growth retardation Dental malocclusion Joint laxity Anxiety Umbilical hernia Flexion contracture Clinodactyly of the 5th finger Abnormal heart morphology Joint stiffness Craniosynostosis Malabsorption Poor speech Joint hyperflexibility Abnormality of the dentition Atrial septal defect Microdontia Intellectual disability, moderate Hypertension Hypoplasia of penis Coarctation of aorta Abnormality of lipid metabolism Recurrent otitis media Nephrocalcinosis High pitched voice Abnormality of the fingernails Unilateral renal agenesis Renal hypoplasia Hypotelorism Renal agenesis Abnormality of the voice Short philtrum Kyphoscoliosis Otitis media Gait ataxia Low anterior hairline Delayed myelination Vesicoureteral reflux Abnormal pyramidal sign Broad forehead Prominent forehead Dysphagia Pain Unsteady gait Absent speech Long eyelashes Hyperactivity Broad thumb Thick lower lip vermilion Pointed chin Brisk reflexes Abnormal social behavior Thick eyebrow Abnormal cardiac septum morphology Ventriculomegaly Pes planus Macrotia Short chin Speech apraxia Macrocephaly Cerebral cortical atrophy Protruding ear Neonatal hypotonia Autistic behavior Bicuspid aortic valve Adducted thumb Abnormal dermatoglyphics Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Reduced bone mineral density Widely spaced teeth Arnold-Chiari malformation Redundant skin Ischemic stroke Developmental regression Progressive hearing impairment Sacral dimple Hyperlordosis Schizophrenia Hypercalcemia Spina bifida occulta Tracheoesophageal fistula Arthralgia Proteinuria Vertebral segmentation defect Hypertrophic cardiomyopathy Premature graying of hair Hallux valgus Open bite Loss of consciousness Polyuria Glucose intolerance Hypoplastic toenails Abnormality of the kidney Abnormality of dental morphology Cleft lip Obsessive-compulsive behavior Chronic otitis media Nephritis Portal hypertension Precocious puberty Low-set, posteriorly rotated ears Radioulnar synostosis Failure to thrive in infancy Cutis laxa Everted lower lip vermilion Abnormality of dental enamel Edema Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Carious teeth Genu valgum Cardiomegaly Abnormality of extrapyramidal motor function Oral cleft Mitral valve prolapse Abnormality of the cardiovascular system Pulmonic stenosis Tetralogy of Fallot Dehydration Thick vermilion border Chest pain Sudden cardiac death Full cheeks Macroglossia Hypodontia Postural instability Nausea and vomiting Small nail Sleep disturbance Amblyopia Hypogonadotrophic hypogonadism Increased body weight Irritability Increased bone mineral density Blepharophimosis Narrow face Hoarse voice Aortic valve stenosis Gingival overgrowth Nephrolithiasis Myocardial infarction Scarring Stroke Recurrent urinary tract infections Involuntary movements Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Corneal opacity Hemiparesis Hemivertebrae Horizontal eyebrow Prematurely aged appearance Infantile hypercalcemia Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Renovascular hypertension Abnormality of the gastric mucosa Food intolerance Medial flaring of the eyebrow Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Abnormality of the diencephalon Elfin facies Abnormality of the ankles Inability to walk Esophoria High-frequency hearing impairment Facial paralysis Facial diplegia Facial palsy Cerebral visual impairment Status epilepticus Generalized-onset seizure Hip dysplasia Abnormal cerebellum morphology EEG abnormality Bilateral vocal cord paralysis Optic atrophy Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Tubulointerstitial abnormality Vascular tortuosity Facial cleft Down-sloping shoulders Dyslexia Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Tubulointerstitial nephritis Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Multiple renal cysts Abnormality of refraction Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Autism Insomnia Restlessness Cerebral ischemia Gait imbalance Colonic diverticula Abnormality of nervous system morphology Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Dysgraphia Periorbital fullness Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Decreased plasma carnitine Megalocornea Hypertonia Glaucoma Progressive cerebellar ataxia Epidermal acanthosis Wide intermamillary distance Sloping forehead Bradykinesia Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge High myopia Polyneuropathy Cutaneous photosensitivity Sensory neuropathy Falls Dilated cardiomyopathy Slender finger Retinopathy Sparse hair Single umbilical artery Rigidity Volvulus Cavum septum pellucidum Intestinal malrotation Broad-based gait Severe short stature Bilateral cryptorchidism Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Long nose Truncal obesity Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Highly arched eyebrow Abnormal lung morphology Postural tremor Dysdiadochokinesis Slurred speech Goiter Leukopenia Acanthosis nigricans Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Hypogonadism Pes cavus Glioma Platyspondyly Thin ribs Broad palm Short finger Short femoral neck Metaphyseal widening Intellectual disability, progressive Coxa vara Wormian bones Abnormality of the face Optic disc pallor Abnormality of the genitourinary system Broad foot Poor head control Deep philtrum Cerebral atrophy Overfolded helix Myopathic facies Delayed ability to walk Inverted nipples Pain insensitivity Oval face Broad chin Hypoplasia of the odontoid process Thoracic kyphosis Diastema Stereotypy Unilateral cryptorchidism Thrombocytopenia Recurrent infections Immunodeficiency Cardiomyopathy Muscular hypotonia of the trunk Peripheral neuropathy Anemia Astigmatism Decreased fetal movement Peg-like central prominence of distal tibial metaphyses Spondyloepimetaphyseal dysplasia Cone-shaped capital femoral epiphysis Widened subarachnoid space Metaphyseal cupping of metacarpals Anterior rib cupping Prominent sternum Subcortical cerebral atrophy Flattened epiphysis Small epiphyses Flared iliac wings Delayed CNS myelination Chronic lung disease Multinodular goiter Abdominal pain Broad columella Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Short upper lip Spinal dysraphism Stiff neck Tethered cord Hyperextensibility of the finger joints Epididymal cyst Enlarged joints 11 pairs of ribs Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles Proportionate short stature Congenital posterior urethral valve Enlarged naris Impulsivity Overfolding of the superior helices Narrow mouth Recurrent respiratory infections Elevated serum creatine phosphokinase Patent ductus arteriosus Pectus excavatum Depressivity Renal insufficiency Kyphosis Behavioral abnormality Congestive heart failure Myopathy Curved fingers Respiratory distress Ventricular septal defect Cleft palate Muscular hypotonia Failure to thrive Scoliosis Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Preauricular pit Clubbing Gastrointestinal stroma tumor Upslanted palpebral fissure Nonprogressive cerebellar ataxia Poor motor coordination Telecanthus Narrow nasal tip Mesiodens Arthritis Hydronephrosis Conductive hearing impairment Short ear Hippocampal atrophy Hypoplastic hippocampus Camptodactyly of finger Segmental myoclonic seizures Hypospadias Abnormality of cardiovascular system morphology Dilatation Headache Vomiting Abnormality of the skeletal system Abnormality of the pinna Coloboma Long neck Positive Romberg sign Impaired social interactions Language impairment Short palpebral fissure Trigonocephaly Wide nose Nasal speech Abnormality of the hand Generalized myoclonic seizures Memory impairment Finger clinodactyly Generalized hirsutism Short thumb Intention tremor Low posterior hairline Abnormal cortical gyration Interphalangeal joint contracture of finger Depressed nasal ridge Underdeveloped nasal alae Palpebral edema Prominent nose Hypoplasia of the maxilla Small hand Hirsutism Thin vermilion border Large forehead Accommodative esotropia



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